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TranscriptomicsGene expression profile of HLRCC associated renal cell cancer
Gene expression profiles of normal kidney (3 technical replicates) and a renal tumor (3 technical replicates) from a hereditary leiomyomatosis and renal cell cancer (HLRCC) patient carrying a germline mutation in the fumarate hydratase (FH) gene. Tumor and normal tissue from one patient, both in 3 t...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-20896 | biostudies-arrayexpress
TranscriptomicsGene expression profile of HLRCC associated renal cell cancer
Gene expression profiles of normal kidney (3 technical replicates) and a renal tumor (3 technical replicates) from a hereditary leiomyomatosis and renal cell cancer (HLRCC) patient carrying a germline mutation in the fumarate hydratase (FH) gene.
ORGANISM(S): Homo sapiens 
2010-12-31 | GSE20896 | GEO
GenomicsTargeting a pathogenic cryptic exon that drives HLRCC to induce exon skipping
Targeting a pathogenic cryptic exon that drives HLRCC to induce exon skipping
PRJNA1238264 | ENA
UnknownComplete Response of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)-Associated Renal Cell Carcinoma to Pembrolizumab Immunotherapy: A Case Report.
Not available
S-EPMC8554149 | biostudies-literature
UnknownCase report: Going through pregnancy safely after twice partial nephrectomy for bilateral kidneys with HLRCC-associated RCC.
Not available
S-EPMC9623055 | biostudies-literature
UnknownTargeting a pathogenic cryptic exon that drives HLRCC to induce exon skipping.
Not available
S-EPMC12396411 | biostudies-literature
OtherTargeting a pathogenic cryptic exon that drives HLRCC to induce exon skipping
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) arises from the loss of fumarate hydratase (FH) activity, leading to the development of cutaneous and uterine leiomyomas as well as early-onset type 2 papillary renal cell carcinoma. Recently, we identified a pathogenic intronic variant in t...
ORGANISM(S): Homo sapiens 
2025-08-19 | GSE292376 | GEO
UnknownRole of ultra-high b-value DWI in the imaging of hereditary leiomyomatosis and renal cell carcinoma (HLRCC).
Not available
S-EPMC10681094 | biostudies-literature
GenomicsCryptic Splice Mutation in the Fumarate Hydratase Gene in Patients With Clinical Manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).
Cryptic Splice Mutation in the Fumarate Hydratase Gene in Patients With Clinical Manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).
PRJNA1003571 | ENA
GenomicsCryptic Splice Mutation in the Fumarate Hydratase Gene in Patients With Clinical Manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).
Cryptic Splice Mutation in the Fumarate Hydratase Gene in Patients With Clinical Manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).
PRJNA1003572 | ENA
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